Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of therapy-related acute non-lymphocytic leukemia (t-ANLL) in a 70-year-old female patient is reported. An operation for lung cancer was performed in February 1991, and she was treated with etoposide (VP-16), a topoisomerase II inhibitor. Nineteen months after the start of chemotherapy, she complained of palpitations, and anemia and thrombocytopenia developed. The myelogram revealed 41.2% leukemic cells, and a diagnosis of t-ANLL induced by VP-16 was made. The karyotype of bone marrow cells showed 46, XX, t(7;11) (p13;p15), 16p+. She obtained complete remission (CR) by treatment with low dose cytosine arabinoside (Ara-C) and cytarabine ocfosfate (SPAC). Karyotype with t-ANLL induced by alkylate agents frequently shows unbalanced abnormalities. The difference of cytogenetic findings suggest the difference of mechanisms. Detailed chromosomal analysis make clear the oncogenesis of t-ANLL. It is reported that the prognosis of patients with t-ANLL treated by conventional chemotherapy is poor. Considering that elderly cases of acute leukemia have a lower probability of achieving CR than non-elderly cases, because of complications and side effects of chemotherapy such as bone marrow suppression, treatment with low dose Ara-C and SPAC is thought to be indicated in elderly patients with t-ANLL.
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PMID:[Therapy-related acute non-lymphocytic leukemia (M2) with 7;11 chromosome translocation induced into complete remission by low dose cytosine arabinoside and cytarabine ocfosfate therapy]. 807 12

We report on 8 cases of de novo myelodysplastic syndromes (MDS) with deletion of the long arm of chromosome 20 (del 20q), who represented about 2% (8/392) of our cases of de novo MDS with cytogenetic analysis seen during a period of 9 yr. Median age was 69 yr, and there were 7 males and 1 female. Anemia was absent or very mild (Hb > 11 g/dl) in 5 patients. Only 1 patient had neutrophils < 0.5 x 10(9)/l, and none had platelets < 50 x 10(9)/l. Four patients had refractory anemia (RA), 2 had refractory anemia with ringed sideroblasts (RARS), and 2 had refractory anemia with excess of blasts (RAEB). Del 20q was isolated in 5 patients, and associated with other chromosomal rearrangement(s) in 3 patients. Only 1 patient progressed to ANLL and 2 showed an increase in bone marrow blasts during evolution. The 5 other patients had stable disease after 18-77 months. By comparison with de novo MDS patients with other cytogenetic findings, patients with del 20q had a tendency towards lower incidence of anemia and excess of marrow blasts, lower incidence of progression to AML and more prolonged survival, although differences were not significant. Only patients with isolated del 5q had a more prolonged survival than patients with del 20q.
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PMID:De novo myelodysplastic syndrome (MDS) with deletion of the long arm of chromosome 20: a subtype of MDS with distinct hematological and prognostic features? 823 Dec 32

Of the uncommon anemias, "common" types include the anemia of renal disease, thalassemia, myelodysplastic syndrome and the anemia of chronic disease. These conditions may be suggested by the clinical presentation, laboratory test values and peripheral blood smear, or by failure of the anemia to respond to iron supplements or nutrient replacement. The principal cause of the anemia of renal disease is a decreased production of red blood cells related to a relative deficiency of erythropoietin. When treatment is required, erythropoietin is administered, often with iron supplementation. In the anemia of chronic disease, impaired iron transport decreases red blood cell production. Treatment is predominantly directed at the underlying condition. Since iron stores are usually normal, iron administration is not beneficial. Thalassemia minor results from a congenital abnormality of hemoglobin synthesis. The disorder may masquerade as mild iron deficiency anemia, but iron therapy and transfusions are often not indicated. In the myelodysplastic syndrome, blood cell components fail to mature, and the condition may progress to acute nonlymphocytic leukemia. The rate of progression depends on the subtype of myelodysplasia, but the leukemia is usually resistant to therapy.
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PMID:'Common' uncommon anemias. 1006 9

Fanconi anemia is a rare autosomal recessive disease characterized by bone marrow failure, developmental anomalies, a high incidence of myelodysplasia and acute nonlymphocytic leukemia, and cellular hypersensitivity to cross linking agents. Five of the seven known Fanconi anemia proteins bind together in a complex and influence the function of a sixth, FANCD2, which colocalizes with BRCA1 in nuclear foci after genotoxic stress. Carboxy-terminal truncating mutations of the seventh Fanconi anemia gene, BRCA2, are hypomorphic and lead to FA-D1 and possibly FA-B. Because the Fanconi anemia alleles of BRCA2 fail to bind to Rad51 in response to genotoxic stress and Rad51 therefore fails to localize to nuclear damage foci, many investigators in the field suspect that the Fanconi anemia pathway supports the integrity of the Rad51 and BRCA1 and BRCA2 pathways as they function in homologous recombination repair. Because these abnormalities are common to all somatic cells, it is unlikely that dysfunction of this particular pathway results in tissue-specific apoptosis of hematopoietic cells. Indeed, at least one of the Fanconi anemia proteins, FANCC, exhibits functions in hematopoietic cells in addition to its role in the complex. Because FANCC protects hematopoietic cells from apoptotic cues in ways that do not require an intact heteromeric Fanconi anemia complex, it is reasonable to expect that the other Fanconi anemia gene products will have independent cytoplasmic and nuclear functions, particularly in hematopoietic and germ cells that seem to rely so substantially on an intact portfolio of Fanconi anemia proteins.
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PMID:Genetic basis of Fanconi anemia. 1248 14

Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure and developmental anomalies; a high incidence of myelodysplasia (MDS), acute nonlymphocytic leukemia (AML), and solid tumors; and cellular hypersensitivity to cross-linking agents. The genetic basis of FA is mutations in any one of the known FA genes. The function of the proteins is largely unknown, but many form complexes with each other, and in one canonical "pathway," eight of the known FA proteins bind together in a complex and monoubiquitinate FANCD2, a protein not present in the core complex. Monoubiquitinated FANCD2 translocates to damage-induced nuclear foci containing BRCA1, BRCA2, and Rad51, thereby protecting the genome. Because hypersensitivity to genotoxic stress is a feature of all somatic cells, this aspect of FA protein function cannot account for the nearly universal development of bone marrow failure. There is strong in vitro and in vivo evidence that at least some of the FA proteins promote survival signaling pathways in hematopoietic cells by forming complexes with signaling molecules. Because associations with heat shock proteins occur in this context, we suggest that these proteins function as co-chaperones and scaffolds that organize proper responses to a wide variety of extracellular cues, some global, and some specific for hematopoietic cells.
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PMID:Fanconi anemia. 1682 57


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